Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0042755 (masculinization)
 2,562 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The effect of pinealectomy (PX) and sham-pinealectomy (SPX) on the calculated concentration of NaCl in the total volume of fluid drunk per day ([NaCl]I) in female rats offered a free choice between water and 3% NaCl solution was measured. In normal rats the [NaCl]I increases after attainment of sexual maturity. The increase can be accelerated by neonatal PX. Neonatal 'masculinization' of female rats by testosterone propionate (TP2) removes the increase of [NaCl]I in adult females and suppresses the acceleration due to PX. Neonatal SPX interferes with this decreasing effect of TP2 in adult female rats. The role of the pineal gland in the regulation of water and salt intake is discussed in relation to sex differences, sexual maturation and neonatal stress.
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PMID:The pineal gland and the effect of neonatal administration of androgen upon the development of spontaneous salt and water intake in female rats. 116 47

The adrenogenital syndrome (AGS; congenital adrenal hyperplasia [CAH]) is caused by a congenital defect in biosynthesis of cortisol. It is transmitted by the autosomal recessiv mode of inheritance. Its frequency in Central Europe is about 1:5000 live births, which means two to three times more frequent than phenylketonuria. The following enzyme deficiencies have been described so far: 21-kydroxylase (mild and severe type), 11-hydroxylase, 3-beta-hydroxysteroiddehydrogenase, 17-alpha-hydroxylase, cholesterol desmolase, 18-hydroxylase, 18-dehydrogenase. The clinical symptoms of AGS consist of signs of virilism in girls and macrogenitosomia praecox in boys. In addition, life threatening salt losing crises occur in patients with the severe form of 21-hydroxylase deficiency and the rare cases of 3-beta-hydroxysteroiddehydrogenase and 18-hydroxylase deficiency. The diagnosis should be made as early as possible by a thorough clinical examinations revealing signs of virisism and by the determination of elevated concentrations of androgens in plasma and urine. The therapy consists of substitution of cortisol (hydrocortisone) in the doses of 25--40 mg per m2 body surface per day. If synthetic derivatives are used glucocorticoid equivalent doses must be considered. Regular, short-term follow-ups on outpatient basis are necessary in order to monitor proper growth, bone age development and urinary steroid excretion. On this supposition almost normal growth and development can be achieved in children with AGS. Girls may become fertile following additional corrective surgery. Only in patients with the salt losing form of AGS normal growth appears to be limited despite optimal medical supervision.
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PMID:[Present state of diagnosis and treatment of the adrenogenital syndrome (author's transl)]. 124 May 49

During 1981-88, 63 cases of female pseudohermaphroditism (FPH) were seen at the Intersex clinic at AIIMS, of whom 34 (54%) were diagnosed as due to congenital adrenal hyperplasia (CAH). Though ambiguity was present at birth in most cases, only one child was brought immediately after birth, while 14 presented after one year. Family history of affected siblings and fetal wastage was present in 10. Salt wasting symptoms were present in 13 (38.2%), evidence of early virilization in 10 (29.4%) and generalised hyperpigmentation in 7 (20.6%). Clitoromegaly was present in 30 children with labial fusion in 10 and scrotalisation of labia in 6. The urogenital opening was single in 25 (73.5%). Buccal smear was positive for sex chromatin in 19. Chromosomal pattern showed 46 XX in 33. Dyselectrolytemia was present in 16 children. Bone age was advanced in all. Adrenal hyperplasia could be documented in 3 on CT scan. All the girls were put on hydrocortisone or prednisolone, and fluodrocortisone was given only to children with salt wasting CAH. Children with CAH are being brought to medical attention much too late and investigative and therapeutic facilities are grossly inadequate. There is a need to educate primary care physicians for early case detection and provide minimum diagnostic and therapeutic facilities in regional centres.
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PMID:Congenital adrenal hyperplasia: experience at intersex clinic, AIIMS. 145 72

To improve diagnostic criteria in different (classical salt-wasting (SW), classical simple virilizing (SV) and non classical late onset (LO)) forms of congenital adrenal hyperplasia (CAH) due to steroid 21-hydroxylase deficiency, we investigated the urinary excretion of 17-hydroxypregnanolones (17OH-PO(5 beta) and (5 alpha)), 15 beta-hydroxypregnanolone(15 beta OH-PO), pregnanetriol(PT) and 11-oxo-pregnanetriol (11-O-PT) compared to hydrocortisone metabolities. During the 1st month of life newborn infants with CAH-SW excreted from barely detectable to very large amounts of 17OH-PO(5 beta), 15 beta OH-PO and PT, and, in 12 of 14 cases, also 11-O-PT in their urines. From the 1st to the 28th day of life, cortisol metabolites were virtually absent in urines of CAH-SW infants. This was in contrast of 36 healthy newborn infants. We measured the excretion of 17OH-PO(5 alpha) in children with CAH of whom 19 patients with CAH-SV had a median 17OH-PO(5 alpha) excretion of 1110 micrograms/day (range: 152-5515). In 21 patients with CAH-LO, median excretion of 17OH-PO(5 alpha) was 294 micrograms/day (range: 66-1273). Besides the conventional metabolites of 17-hydroxyprogesterone (17OH-PO(5 beta), PT and 11-O-PT), no 17OH-PO(5 alpha) was detected in the urines of 14 patients with precocious pubarche, in 14 patients with virilization of unknown origin and in 94 healthy children of comparable age. The ratio of 17OH-PO(5 alpha) to tetrahydrocortisone (THE) discriminated between CAH-SV and CAH-LO from the 1st to the 18th year of age.(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:Urinary excretion of 17-hydroxypregnanolones in patients with different forms of congenital adrenal hyperplasia due to steroid 21-hydroxylase deficiency. 172 39

The salt-wasting (SW) and simple-virilizing (SV) forms of congenital adrenal hyperplasia (CAH) are characterized by distinct prenatal hormonal milieus. To test whether these hormonal milieus differentially influence the development of a "more masculine" behavioral pattern in female CAH patients (Dittmann et al., 1990), SW patients (N = 13) were compared both to SV patients (N = 20) and healthy sisters of both groups (N = 16). The data are based on semi-structured interviews in which subjects (11-41 yr) and mothers were asked about aspects of "Gender-related interests and behavior," "Level of activity," "Social behavior," (reflecting e.g., assertiveness, dominance, and acceptance by peer groups) and "Appearance"; these areas of interest were represented by composite scales. On most scales, and by both mother-assessment and self-assessment, SW patients differed significantly from both SV patients and sisters in having a "more masculine" orientation. SW patients also showed a higher "Level of activity." These SW group results probably account for much of the CAH/sister differences reported in the companion article (Dittmann et al., 1990). In contrast, SV patients differed from the sister sample on only a few scales. There were no significant differences between SV and SW subjects in the degree of virilization of the external genitalia (indicating no group difference in prenatal androgenization). SW patients were treated "earlier" and "better" after birth (indicating less postnatal androgenization). However, these medical conditions, as well as several psychosocial/demographic variables, could not explain the group behavioral differences. These results do not support a primarily psychosocial explanation of behavioral development in CAH patients, especially those with the SW condition; they rather suggest differential organizational effects of two different hormonal environments (SV vs. SW) during critical periods of prenatal CNS development.
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PMID:Congenital adrenal hyperplasia. II: Gender-related behavior and attitudes in female salt-wasting and simple-virilizing patients. 210 64

A retrospective study of all Swedish patients with congenital adrenal hyperplasia (CAH) born 1969-1986, was conducted to elucidate possible benefits of neonatal screening for CAH. Information was obtained about 150 patients (67 male, 83 female). One hundred and forty-three cases were regarded as classical and seven as non-classical (symptoms after 5 years of age or cryptic). All but two (one girl with 11-hydroxylase deficiency and one boy with beta-hydroxysteroid-dehydrogenase deficiency) had 21-hydroxylase deficiency. The prevalence was 1:11,500. Ninety-three patients (48 male, 45 female) displayed salt loss, all before the age of 3 months. Two boys had died and many children had been critically ill during the first weeks of life. The median age at diagnosis for boys in this group was 21 days. Gender assignment was a major problem in 38 of 57 girls with ambiguous genitalia noticed during the first day. Fifteen of these girls were considered to be male for their first 40 days (median), before the CAH diagnosis was established. Patients in whom the first symptom was manifested after the age of one year often showed growth acceleration, which frequently was overlooked. Median diagnostic delay in this group was 17 months. Possible benefits of neonatal screening are: avoidance of a serious salt-loss crisis; earlier diagnosis and correct gender assignment in virilized girls; decreased virilization, growth acceleration and premature pubarche in prepubertal children; and reduced negative consequences for psycho-social development and final height.
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PMID:Congenital adrenal hyperplasia in Sweden 1969-1986. Prevalence, symptoms and age at diagnosis. 232 78

We report on two genotypic females with complete masculinization of the external genitalia secondary to congenital adrenal hyperplasia resulting from 21-hydroxylase deficiency. One patient had the salt-losing variant, and the other had the simple virilizing or nonsalt-losing variant. One was evaluated neonatally during an adrenal crisis and misidentified as male; the second was unrecognized. Both were being reared as males when the true genotype was recognized during evaluation for cryptorchidism. The female internal genitalia were subsequently removed and testicular implants placed. These cases demonstrate the need to exclude congenital virilizing adrenal hyperplasia in any phenotypic male infant with bilateral cryptorchidism. When this condition is diagnosed, early and genotypically appropriate sex assignment is important if reproductive function is to be preserved and subsequent emotional and social complications avoided.
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PMID:Occurrence of male phenotype in genotypic females with congenital virilizing adrenal hyperplasia. 257 34

The adrenogenital syndrome (AGS) is a relatively common inherited metabolic disease, generally caused by a deficiency of the adrenocortical enzyme steroid 21-hydroxylase. This results in an insufficient biosynthesis of several important steroid hormones such as cortisol and aldosterone, and, on the other hand, in a strongly increased production of androgens (testosterone). In girls, virilization of the external genitals is usually seen. In some patients, severe salt loss occurs shortly after birth, and a life-threatening crisis may develop. Mild variants of the disease have also been described. Steroid 21-hydroxylase is encoded by a gene within the HLA complex on the short arm of chromosome 6. HLA typing thus allows the study of the hereditary transmission of several forms of the AGS. In addition, molecular biology at present opens new perspectives to fundamental and clinical genetic research.
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PMID:[Adrenogenital syndrome. I. Introduction, enzymology and heredity]. 267 99

Congenital adrenal hyperplasia due to 21-hydroxylase deficiency can result in marked virilization of the external genitalia of affected female subjects. Theoretically, suppression of the fetal pituitary-adrenal axis with glucocorticoid during gestational weeks 9 to 17 should prevent the development of ambiguous genitalia in the female fetus. Prenatal diagnosis of congenital adrenal hyperplasia can be made on elevated amniotic fluid 17-hydroxyprogesterone and adrenal androgen concentrations, and HLA typing of cultured amniotic fluid cells. However, these tests cannot be completed before 16 to 17 weeks of gestation, and maternal therapy would have to be instituted before the exact genetic status of the fetus is known. Chorionic villus sampling during the first trimester provides an alternative to second trimester diagnosis in patients who are at risk for bearing offspring with congenital adrenal hyperplasia. We report the use of dexamethasone suppression at 8 weeks of gestation in a 34-year-old woman whose son had congenital adrenal hyperplasia due to severe salt-losing 21-hydroxylase deficiency and whose biopsy revealed a 46XX chromosomal pattern. Cultured cells from the biopsy confirmed the fetus to be of identical HLA haplotype to the previous affected sibling. At 41 weeks the patient delivered a female neonate with minimal prominence of the clitoris, mildly rugated labia, a single perineal opening and minimal posterior labial fusion. Postnatal tapering of maternal steroids was performed with no long-term sequelae.
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PMID:Prenatal fetal adrenal suppression following in utero diagnosis of congenital adrenal hyperplasia. 274 96

Measurement of blood-spot 17-hydroxyprogesterone (17-OHP) concentration was used to identify cases of congenital adrenal hyperplasia (CAH) among patients with inappropriate virilization and/or salt wasting. Between 1978 to 1986 61 cases with 21-hydroxylase deficiency among 707 patients (278 newborns, 204 infants and 225 children) were identified. The incidence of classical CAH was calculated for a seven year prospective trial period using the blood-spot 17-OHP method in selective screening. There were 38 salt-losers and 14 simple virilizers in 968,303 live births giving an incidence of 1 in 18,000 for CAH in the Hungarian population. The use of a central laboratory facility to measure the blood-spot 17-OHP concentrations is proposed as a valuable initial method to investigate patients at risk for CAH in countries where blood steroid assays are not readily available in hospitals.
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PMID:[Screening for congenital adrenal hyperplasia in Hungary]. 278 47


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